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isoCNV: in silico optimization of copy number variant detection from targeted or exome sequencing data.

Rosa Barcelona-CabezaWalter SanseverinoRiccardo Aiese Cigliano
Published in: BMC bioinformatics (2021)
isoCNV provides an easy-to-use pipeline to optimize DECoN that allows the detection of analysis-ready CNV from a set of DNA alignments obtained under the same conditions. It increases the sensitivity of DECoN without the need for orthogonal methods. isoCNV is available at https://gitlab.com/sequentiateampublic/isocnv .
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